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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-75587752-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75587752&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 75587752,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_033063.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "c.1749T>C",
"hgvs_p": "p.Asp583Asp",
"transcript": "NM_033063.2",
"protein_id": "NP_149052.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 813,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304771.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033063.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "c.1749T>C",
"hgvs_p": "p.Asp583Asp",
"transcript": "ENST00000304771.8",
"protein_id": "ENSP00000307093.3",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 813,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033063.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304771.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "c.1788T>C",
"hgvs_p": "p.Asp596Asp",
"transcript": "ENST00000950404.1",
"protein_id": "ENSP00000620463.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 826,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950404.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "c.1338T>C",
"hgvs_p": "p.Asp446Asp",
"transcript": "ENST00000950405.1",
"protein_id": "ENSP00000620464.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 676,
"cds_start": 1338,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950405.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "c.762T>C",
"hgvs_p": "p.Asp254Asp",
"transcript": "ENST00000526740.3",
"protein_id": "ENSP00000434278.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 484,
"cds_start": 762,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526740.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "c.1797T>C",
"hgvs_p": "p.Asp599Asp",
"transcript": "XM_017017755.3",
"protein_id": "XP_016873244.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 829,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017755.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "c.894T>C",
"hgvs_p": "p.Asp298Asp",
"transcript": "XM_017017756.2",
"protein_id": "XP_016873245.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 528,
"cds_start": 894,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017756.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "c.810T>C",
"hgvs_p": "p.Asp270Asp",
"transcript": "XM_017017758.2",
"protein_id": "XP_016873247.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 500,
"cds_start": 810,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017758.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP6-AS1",
"gene_hgnc_id": 58170,
"hgvs_c": "n.299+4471A>G",
"hgvs_p": null,
"transcript": "ENST00000527803.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000527803.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP6-AS1",
"gene_hgnc_id": 58170,
"hgvs_c": "n.186+4471A>G",
"hgvs_p": null,
"transcript": "ENST00000830736.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830736.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP6-AS1",
"gene_hgnc_id": 58170,
"hgvs_c": "n.214+4471A>G",
"hgvs_p": null,
"transcript": "ENST00000830737.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP6-AS1",
"gene_hgnc_id": 58170,
"hgvs_c": "n.99+3972A>G",
"hgvs_p": null,
"transcript": "ENST00000830738.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP6-AS1",
"gene_hgnc_id": 58170,
"hgvs_c": "n.151+4608A>G",
"hgvs_p": null,
"transcript": "ENST00000830739.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830739.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP6-AS1",
"gene_hgnc_id": 58170,
"hgvs_c": "n.117+4636A>G",
"hgvs_p": null,
"transcript": "ENST00000830740.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000830740.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP6-AS1",
"gene_hgnc_id": 58170,
"hgvs_c": "n.86+4471A>G",
"hgvs_p": null,
"transcript": "NR_145823.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_145823.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"hgvs_c": "n.*238T>C",
"hgvs_p": null,
"transcript": "ENST00000526689.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526689.1"
}
],
"gene_symbol": "MAP6",
"gene_hgnc_id": 6868,
"dbsnp": "rs1231128",
"frequency_reference_population": 0.32309094,
"hom_count_reference_population": 88516,
"allele_count_reference_population": 521377,
"gnomad_exomes_af": 0.322286,
"gnomad_genomes_af": 0.33084,
"gnomad_exomes_ac": 471125,
"gnomad_genomes_ac": 50252,
"gnomad_exomes_homalt": 79781,
"gnomad_genomes_homalt": 8735,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.795,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_033063.2",
"gene_symbol": "MAP6",
"hgnc_id": 6868,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1749T>C",
"hgvs_p": "p.Asp583Asp"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000527803.2",
"gene_symbol": "MAP6-AS1",
"hgnc_id": 58170,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.299+4471A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}